Understanding the genetics of meningomyelocele and the role of folic acid in prevention
Project I - Human genetics of meningomyelocele and risk mitigation by folic acid
This study is looking at how genes and folic acid might play a role in causing meningomyelocele, a birth defect that affects the spine, and it's for families with children who have this condition to help us learn more about how to prevent it.
Quick facts
| Grant type | P01 program project |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California, San Diego NIH-funded |
| Lab location | 1 site (La Jolla, United States) |
| Project ID | NIH-11017625 on NIH RePORTER |
What this research studies
This research investigates the genetic factors contributing to meningomyelocele, a common birth defect of the central nervous system, and how folic acid supplementation may help reduce its incidence. By recruiting families with children affected by this condition, the study aims to analyze genetic variations and their interactions with environmental factors like folic acid intake. The research will involve detailed genetic testing and phenotyping of participants to uncover the underlying mechanisms of this birth defect. The goal is to enhance our understanding of how genetic mutations and dietary factors influence the risk of meningomyelocele.
Who could benefit from this research
Good fit: Ideal candidates for this research include families with children diagnosed with meningomyelocele, particularly those who can provide genetic samples.
Not a fit: Patients with conditions unrelated to meningomyelocele or those who do not have access to folic acid supplementation may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved prevention strategies for meningomyelocele and potentially other related congenital disorders.
How similar studies have performed: Previous research has shown success in understanding genetic contributions to similar congenital disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
La Jolla, United States
- University of California, San Diego — La Jolla, United States (Active)
Researchers
- Principal investigator: Gleeson, Joseph G — University of California, San Diego
- Study coordinator: Gleeson, Joseph G
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.